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Gene Result Question

ADevoto

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ADevoto Explorer
ADevoto
Posted

I finally got our son's stool and gene test back from Enterolab. Here are the results. I have a question about the gene results - Does this mean he has multiply genes or just subtypes . It is very confusing.

Gluten sensitivity stool test - 13 units (shows sensitivity)

All other tests for normal

Gene test:

Molecular analysis - HLA-DQB1 *0201, 0602

Serologic analysuis: HLA-DQ 2, 1 (subtype 2,6)

It looks like he needs to be on the diet. Any comments? Thanks

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3boyzmom Newbie
3boyzmom
Posted

Within each set of genes there are many subtypes. The number *0201 is the exact gene your son has. Then withthin the grouping of *02xx genes there are subtypes. Same with any of the genes, so the *0602 is the DQ1, subtype 6.

The genes pan out as follows:

DQB1 *0201 = DQ2, subtype 2

DQB1 *0602 = DQ1, subtype 6 (OR it can also be referred to as DQ6)

He has 2 genes, one from you and one from your husband. BOTH of these genes predispose someone to a gluten sensitivity. DQ2 is associated with celiac disease and gastro problems, while DQ1 is associated with gluten induced neurological problems. I would definitely take a look at you and your husband and any other children.

There are some pretty good explanations on these genes and their typing on the Braintalk forum. Here is one post that gives some links to help understand your gene naming:

Open Original Shared Link

ADevoto Explorer
ADevoto
Posted
  • Author

Thank you , thank you, thank you. I thought no one was ever going to reply!! That was very helpful. and actually cleared up somethings. It was very interesting that you said that that the DQ1 (I think) was tied to nuerological problems because he has many of these that we haven't been able to figure out why. Thank you so much!

burdee Enthusiast
burdee
Posted

Hi ADevoto: Enterolab usually adds an interpretation of test results with their lab test results email. What did they say about the genetic results? If you have questions, write to Dr. Fine at E-lab. He WILL answer your email promptly. ;)

BURDEE

ADevoto Explorer
ADevoto
Posted
  • Author

They just said that the HLA - DQ2 is the main gene that predisposes to gluten sensitivity and celiac. Can also prodisse to microscopic colitis and other autoimmune syndromes. Nothing about DQ1. But Dr. Fine did return an email to me that just said the above and that DQ1 usually doesn't lead to celiac but to sensitivity only.

I just wanted to understand more. I know that there is high % of people that are celiac that have the DQ2 gene but I really need to find the statistic that show what % of people that have the gene actually become celiac. Need more "proof" for my husband.

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      High DGP-A with normal IGA

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      Okay well the info about TTG-A actually makes a lot of sense and I wish the PA had explained that to me. But yes, I would assume I would have intestinal damage from eating a lot of gluten for 32 years while having all these symptoms. As far as avoiding gluten foods - I was definitely not doing that. Bread, pasta, quesadillas (with flour tortillas) and crackers are my 4 favorite foods and I ate at least one of those things multiple times a day e.g. breakfast with eggs and toast, a cheese quesadilla for lunch, and pasta for dinner, and crackers and cheese as a before bed snack. I'm not even kidding.  I'm not really big on sugar, so I don't really do sweets. I don't have any of those conditions.  I am not sure if I have the genes or not. When the geneticist did my genetic testing for EDS this year, I didn't think to ask for him to request the celiac genes so they didn't test for them, unfortunately.  I guess another expectation I had is  that if gluten was the issue, the gluten-free diet would make me feel better, and I'm 3 months in and that hasn't been the case. I am being very careful and reading every label because I didn't want to screw this up and have to do gluten-free for longer than necessary if I end up not having celiac. I'm literally checking everything, even tea and anything else prepacked like caramel dip. Honestly its making me anxious 😅
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      I was tested for celiac at the same time, so I wasn't taking naltrexone yet. I say that, because I don't. The endoscopy showed some mild inflammation but was inconclusive as to celiac disease. They took several biopsies and that's all that was shown. I was not given a Marsh score.
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